2.50
Hdl Handle:
http://hdl.handle.net/2336/68633
Title:
Væg dreyrasýki A á Íslandi
Other Titles:
Mild haemophilia A in Iceland
Authors:
Ólafur Jensson; Sif Jónsdóttir
Citation:
Læknablaðið 1995, 81(6):477-83
Issue Date:
1-Jun-1995
Abstract:
A family survey of mild hemophilia A has been carried out during the last 25 years. Presently these families contain 27 living affected males or approximately twice the number of males with severe form of hemophilia A in Iceland. The aim of the study was to define the phenotype in three families with mild haemophilia A and to determine RFLP (Restriction Fragment Length Polymorphism) polymorphisms, which could support a hypothesis of a common progenitor of the families. Family survey was made and index cases were identified in and outside hospitals and a survey for symptoms and signs of bleeding in family members and sampling for coagulation and RFLP studies were mostly carried out in the field. Family members with and without symptoms of bleeding were selected for investigation and normal spouses and unrelated individuals were investigated for control. Bleeding time, factor VIII activity, quantification of factor VIII Ag, von Wil-lebrand factor Ag and vWF ristocetin assay. Typing of RFLP polymorphisms for genetic homogeneity. Bleeding manifestations are present in both sexes in the three families although more frequent and more severe in the males. Prolonged bleeding time in 6 of 7 affected members in one of the families and subnormal levels in von Willebrand related assays point to an additional abnormality which has not been explained. The level of factor VIII activity is between 10-20% in most affected males whereas 35-60% is found approximately in 2/3 of females carriers and in 1/3 of them factor VIII activity is within the normal range. Major bleeding episodes in family members are associated with accidents, surgical procedures menorrhagia and in some cases provoked by diseases such as intestinal ulceration, kidney stones and abnormalities of vasculature. RFLP polymorphisms were detected, which are common to the families and they support hypothesis of a common progenitor. The genetic studies show relatively high prevalence of this type of mild haemophilia A, which seems to have been present for at least 6-8 generations in Iceland. It is suggested that screening for this mild haemophilia A gene by molecular genetic method would be of clinical value now, when it's mutation has been detected. Transmission of mild haemophilia A through 6-9 generations is demonstrated by the study. Founder effect is confirmed by studies of RFLP polymorphisms. The mild haemophilia A type described is the most prevalent of haemophilia A types in Iceland (population 265,000, 1993).; Gefið er yfirlit um rannsóknir á sex fjölskyldum með væga dreyrasýki A (haemophilia A) sem hafa verið rannsakaðar á síðustu 25 árum. Í þeim greinast nú 27 dreyrasjúkir karlar og er það um það bil tvöfalt fleiri en núlifandi karlar með svæsið form af dreyrasýki A. Með nýlegum sameindaerfðafræðirannsóknum hefur verið sýnt fram á fjórar stökkbreytingar í geni storkuþáttar VIII (haemophilia A gen) sem liggja til grundvallar vægri dreyrasýki A í ofangreindum sex fjölskyldum. Í þremur fjölskyldum er um að ræða sömu stökkbreytingu sem veldur dreyrasýkinni. Með þessum niðurstöðum, og reyndar áður einnig með storkuþáttarrannsóknum, hefur fyrri sjúkdómsgreining verið leiðrétt, en hún var gerð á þessum fjölskyldum árið 1970. Skerðibútabreytileikinn (RFLP = Restriction Fragment Length Polymorphism) í þessum fjölskyldum sem fundist hefur í dreyrasýkigeninu og aöliggjandi svæðum þess er sterk vísbending um skyldleika fjölskyldnanna, sem eiga uppruna í samliggjandi sóknum í Rangárvallasýslu. Þykir ljóst að meingen vægrar dreyrasýki A í þessum fjölskyldum hefur borist milli ættliða í að minnsta kosti tvær aldir og er jafnframt langalgengasta tegund dreyrasýki A hér á landi. Fimm sjúkdómstilfelli með væga dreyrasýki A koma fram í öörum þremur ættum sem hver um sig ber í sér sérstaka stökkbreytingu í geni dreyrasýki A. Ástæða er til að kanna frekar tíðni þessa blæðingarsjúkdóms hérlendis með erfðatæknirannsóknum.
Description:
Neðst á síðunni er hægt að nálgast greinina í heild sinni með því að smella á hlekkinn View/Open
Additional Links:
http://www.laeknabladid.is

Full metadata record

DC FieldValue Language
dc.contributor.authorÓlafur Jensson-
dc.contributor.authorSif Jónsdóttir-
dc.date.accessioned2009-05-20T08:49:25Z-
dc.date.available2009-05-20T08:49:25Z-
dc.date.issued1995-06-01-
dc.date.submitted2009-05-20-
dc.identifier.citationLæknablaðið 1995, 81(6):477-83en
dc.identifier.issn0023-7213-
dc.identifier.urihttp://hdl.handle.net/2336/68633-
dc.descriptionNeðst á síðunni er hægt að nálgast greinina í heild sinni með því að smella á hlekkinn View/Openen
dc.description.abstractA family survey of mild hemophilia A has been carried out during the last 25 years. Presently these families contain 27 living affected males or approximately twice the number of males with severe form of hemophilia A in Iceland. The aim of the study was to define the phenotype in three families with mild haemophilia A and to determine RFLP (Restriction Fragment Length Polymorphism) polymorphisms, which could support a hypothesis of a common progenitor of the families. Family survey was made and index cases were identified in and outside hospitals and a survey for symptoms and signs of bleeding in family members and sampling for coagulation and RFLP studies were mostly carried out in the field. Family members with and without symptoms of bleeding were selected for investigation and normal spouses and unrelated individuals were investigated for control. Bleeding time, factor VIII activity, quantification of factor VIII Ag, von Wil-lebrand factor Ag and vWF ristocetin assay. Typing of RFLP polymorphisms for genetic homogeneity. Bleeding manifestations are present in both sexes in the three families although more frequent and more severe in the males. Prolonged bleeding time in 6 of 7 affected members in one of the families and subnormal levels in von Willebrand related assays point to an additional abnormality which has not been explained. The level of factor VIII activity is between 10-20% in most affected males whereas 35-60% is found approximately in 2/3 of females carriers and in 1/3 of them factor VIII activity is within the normal range. Major bleeding episodes in family members are associated with accidents, surgical procedures menorrhagia and in some cases provoked by diseases such as intestinal ulceration, kidney stones and abnormalities of vasculature. RFLP polymorphisms were detected, which are common to the families and they support hypothesis of a common progenitor. The genetic studies show relatively high prevalence of this type of mild haemophilia A, which seems to have been present for at least 6-8 generations in Iceland. It is suggested that screening for this mild haemophilia A gene by molecular genetic method would be of clinical value now, when it's mutation has been detected. Transmission of mild haemophilia A through 6-9 generations is demonstrated by the study. Founder effect is confirmed by studies of RFLP polymorphisms. The mild haemophilia A type described is the most prevalent of haemophilia A types in Iceland (population 265,000, 1993).en
dc.description.abstractGefið er yfirlit um rannsóknir á sex fjölskyldum með væga dreyrasýki A (haemophilia A) sem hafa verið rannsakaðar á síðustu 25 árum. Í þeim greinast nú 27 dreyrasjúkir karlar og er það um það bil tvöfalt fleiri en núlifandi karlar með svæsið form af dreyrasýki A. Með nýlegum sameindaerfðafræðirannsóknum hefur verið sýnt fram á fjórar stökkbreytingar í geni storkuþáttar VIII (haemophilia A gen) sem liggja til grundvallar vægri dreyrasýki A í ofangreindum sex fjölskyldum. Í þremur fjölskyldum er um að ræða sömu stökkbreytingu sem veldur dreyrasýkinni. Með þessum niðurstöðum, og reyndar áður einnig með storkuþáttarrannsóknum, hefur fyrri sjúkdómsgreining verið leiðrétt, en hún var gerð á þessum fjölskyldum árið 1970. Skerðibútabreytileikinn (RFLP = Restriction Fragment Length Polymorphism) í þessum fjölskyldum sem fundist hefur í dreyrasýkigeninu og aöliggjandi svæðum þess er sterk vísbending um skyldleika fjölskyldnanna, sem eiga uppruna í samliggjandi sóknum í Rangárvallasýslu. Þykir ljóst að meingen vægrar dreyrasýki A í þessum fjölskyldum hefur borist milli ættliða í að minnsta kosti tvær aldir og er jafnframt langalgengasta tegund dreyrasýki A hér á landi. Fimm sjúkdómstilfelli með væga dreyrasýki A koma fram í öörum þremur ættum sem hver um sig ber í sér sérstaka stökkbreytingu í geni dreyrasýki A. Ástæða er til að kanna frekar tíðni þessa blæðingarsjúkdóms hérlendis með erfðatæknirannsóknum.en
dc.language.isoisen
dc.publisherLæknafélag Íslands, Læknafélag Reykjavíkuren
dc.relation.urlhttp://www.laeknabladid.isen
dc.subjectDreyrasýkien
dc.subjectErfðiren
dc.subjectErfðasjúkdómaren
dc.subject.meshHemophilia Aen
dc.subject.meshGenetics, Medicalen
dc.subject.meshIcelanden
dc.titleVæg dreyrasýki A á Íslandiis
dc.title.alternativeMild haemophilia A in Icelanden
dc.typeArticleen
dc.identifier.journalLæknablaðiðen
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